Table 2 Ingenuity pathway analysis (IPA) results a) Family 1 b) Family 2 c) Subset of 27 genes found in both affected twins
a. Family 1 | ||
Biological function | P-value | Genes |
Diseases and disorders | ||
Developmental Disorder | 3.93E-03 - 3.21E-02 | 10 |
Hereditary Disorder | 3.93E-03 - 4.58E-02 | 19 |
Skeletal and Muscular Disorders | 3.93E-03 - 3.21E-02 | 5 |
Neurological Disease | 4.77E-03 - 3.54E-02 | 13 |
Molecular and cellular functions | ||
Carbohydrate Metabolism | 7.88E-04 - 2.06E-02 | 3 |
Lipid Metabolism | 7.88E-04 - 2.06E-02 | 3 |
Small Molecule Biochemistry | 7.88E-04 - 4.58E-02 | 7 |
Gene Expression | 2.63E-03 - 4.58E-02 | 18 |
Cell Death and Survival | 5.20E-03 - 3.16E-02 | 13 |
Canonical pathways | ||
Human Embryonic Stem Cell Pluripotency | 6.45E-05 | 6/149 (0.04) |
Tec Kinase Signaling | 1.51E-04 | 6/175 (0.034) |
Sphingosine-1-phosphate Signaling | 2.42E-03 | 4/115 (0.035) |
Renal Cell Carcinoma Signaling | 5.55E-03 | 3/71 (0.042) |
IL-4 Signaling | 6.49E-03 | 3/75 (0.04) |
Physiological system development and function | ||
Cardiovascular System Development and Function | 5.20E-03 - 3.58E-02 | 1 |
Hair and Skin Development and Function | 5.20E-03 - 4.58E-02 | 2 |
Hematological System Development and Function | 5.20E-03 - 4.13E-02 | 7 |
Immune Cell Trafficking | 5.20E-03 - 4.13E-02 | 3 |
Associated network functions | ||
Cell Death and Survival, Cellular Movement, Cellular Function and Maintenance | Score = 19 | |
Cellular Movement, Immune Cell Trafficking, Hematological System Development and Function | Score = 17 | |
Hereditary Disorder, Skeletal and Muscular Disorders, Developmental Disorder | Score = 9 | |
Connective Tissue Disorders, Dermatological Diseases and Conditions, Hematological System Development and Function | Score = 2 | |
Organ Morphology, Reproductive System Development and Function, Cellular Function and Maintenance | Score = 2 | |
b. Family 2 | ||
Cancer | 2.09E-04 - 4.07E-02 | 204 |
Gastrointestinal Disease | 8.86E-04 - 4.07E-02 | 29 |
Organismal Injury and Abnormalities | 9.34E-04 - 3.94E-02 | 46 |
Skeletal and Muscular Disorders | 9.34E-04 - 4.07E-02 | 36 |
Molecular and cellular functions | ||
Lipid Metabolism | 1.88E-04 - 4.07E-02 | 7 |
Molecular Transport | 1.88E-04 - 4.07E-02 | 9 |
Small Molecule Biochemistry | 1.88E-04 - 4.07E-02 | 19 |
Cellular Growth and Proliferation | 3.06E-04 - 4.07E-02 | 21 |
Cell Morphology | 5.59E-04 - 3.63E-02 | 10 |
Canonical pathways | ||
Hepatic Cholestasis | 1.05E-04 | 9/141(0.064) |
Granzyme A Signaling | 1.51E-03 | 3/17 (0.176) |
Ovarian Cancer Signaling | 2.24E-03 | 7/138 (0.051) |
STAT3 Pathway | 3.31E-03 | 5/74 (0.068) |
Colorectal Cancer Metastasis Signaling | 4.9E-03 | 9/244 (0.037) |
Physiological system development and function | ||
Cardiovascular System Development and Function | 1.88E-04 - 4.07E-02 | 10 |
Digestive System Development and Function | 1.88E-04 - 1.88E-04 | 2 |
Embryonic Development | 1.88E-04 - 4.07E-02 | 14 |
Organ Development | 1.88E-04 - 4.07E-02 | 6 |
Associated network functions | ||
Cell Death and Survival, Cellular Development, Connective Tissue Development and Function | Score = 39 | |
Cellular Movement, Immune Cell Trafficking, Hematological System Development and Function | Score = 12 | |
Cancer, Organismal Injury and Abnormalities, Reproductive System Disease | Score = 11 | |
Cell Death and Survival, Cellular Movement, Renal Necrosis/Cell Death | Score = 11 | |
Cell Morphology, Cellular Function and Maintenance, Cell Cycle | Score = 9 | |
c. Shared DMRs between both families | ||
Cancer | 4.03E-04 - 4.50E-02 | 5 |
Connective Tissue Disorders | 4.03E-04 - 8.05E-04 | 1 |
Developmental Disorder | 4.03E-04 - 1.21E-03 | 1 |
Endocrine System Disorders | 4.03E-04 - 4.50E-02 | 2 |
Molecular and cellular functions | ||
Cell Signaling | 4.03E-04 - 3.73E-02 | 1 |
Nucleic Acid Metabolism | 4.03E-04 - 3.73E-02 | 1 |
Small Molecule Biochemistry | 4.03E-04 - 3.73E-02 | 1 |
Gene Expression | 3.62E-03 - 9.63E-03 | 1 |
Cellular Movement | 6.43E-03 - 6.43E-03 | 1 |
Canonical pathways | ||
Protein Kinase A Signaling | 3.09E-04 | 3/368 (0.008) |
Granzyme A Signaling | 6.83E-03 | 1/17 (0.059) |
G Protein Signaling Mediated by Tubby | 1.24E-02 | 1/31 (0.032) |
Serotonin Receptor Signaling | 1.72E-02 | 1/43 (0.023) |
UVB-Induced MAPK Signaling | 2.12E-02 | 1/53 (0.019) |
Physiological system development and function | ||
Nervous System Development and Function | 1.61E-03 - 1.61E-03 | 1 |
Hematological System Development and Function | 6.43E-03 - 2.47E-02 | 1 |
Immune Cell Trafficking | 6.43E-03 - 6.43E-03 | 1 |
Behavior | 2.04E-02 - 2.04E-02 | 1 |
Associated network functions | ||
Infectious Disease, Cancer, Gastrointestinal Disease | Score = 3 | |
Tissue Morphology, Organismal Survival, Gene Expression | Score = 3 | |
Hereditary Disorder, Gene Expression, Embryonic Development | Score = 3 | |
DNA Replication, Recombination, and Repair, Gene Expression, Cancer | Score = 3 | |
Cell Death and Survival, Cellular Function and Maintenance, Connective Tissue Development and Function | Score = 3 | |